AN EXCLUSION MAP OF MARFAN-SYNDROME

被引：25

作者：

BLANTON, SH

SARFARAZI, M

EIBERG, H

DEGROOTE, J

FARNDON, PA

KILPATRICK, MW

CHILD, AH

POPE, FM

PELTONEN, L

FRANCOMANO, CA

BOILEAU, C

KESTON, M

TSIPOURAS, P

机构：

[1] UNIV CONNECTICUT,CTR HLTH,DEPT PEDIAT,FARMINGTON,CT 06032

[2] WESTERN GEN HOSP,CLIN GENET SERV,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND

[3] UNIV COPENHAGEN,INST MED GENET,DK-1168 COPENHAGEN K,DENMARK

[4] BIRMINGHAM MATERN HOSP,CLIN GENET UNIT,BIRMINGHAM B15 2TG,W MIDLANDS,ENGLAND

[5] ST GEORGE HOSP,SCH MED,DEPT CARDIOL SCI,LONDON,ENGLAND

[6] CLIN RES CTR,HARROW HA1 3UJ,MIDDX,ENGLAND

[7] NATL PUBL HLTH INST,MOLEC GENET LAB,SF-00280 HELSINKI 28,FINLAND

[8] JOHNS HOPKINS UNIV,SCH MED,DIV MOLEC GENET,BALTIMORE,MD 21205

[9] INSERM,U73,F-75005 PARIS,FRANCE

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 02期

关键词：

D O I：

10.1136/jmg.27.2.73

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfan syndrome gene is highlighted and all the unexcluded areas of the genome are displayed in a graphical form. This exclusion map shows that almost 75% of the genome has been excluded as a likely location for the Marfan syndrome gene in the majority of the families studied. Apart from chromosomes 8, 13, 21, and 22, for which no data were available, other regions not excluded yet include 5p, 6p, 9p, 10p, 12p, 15, 17p, 18, and 20p. Future linkage analysis using markers located in the highlighted regions should facilitate the identification of the site of the Marfan syndrome gene.

引用

页码：73 / 77

页数：5

共 13 条

[1] LINKAGE ANALYSIS OF 5 FIBRILLAR COLLAGEN LOCI IN A LARGE FRENCH MARFAN-SYNDROME FAMILY [J].